rs119491109

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs119491109(A;G)

Make rs119491109(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73638477

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs119491109
dbSNP (classic)	rs119491109
ClinGen	rs119491109
ebi	rs119491109
HLI	rs119491109
Exac	rs119491109
Gnomad	rs119491109
Varsome	rs119491109
LitVar	rs119491109
Map	rs119491109
PheGenI	rs119491109
Biobank	rs119491109
1000 genomes	rs119491109
hgdp	rs119491109
ensembl	rs119491109
geneview	rs119491109
scholar	rs119491109
google	rs119491109
pharmgkb	rs119491109
gwascentral	rs119491109
openSNP	rs119491109
23andMe	rs119491109
SNPshot	rs119491109
SNPdbe	rs119491109
MSV3d	rs119491109
GWAS Ctlg	rs119491109

Max Magnitude

0

OMIM	604322
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119491109(G;G)
Alt	rs119491109(G;G)
Reference	Rs119491109(A;A)
Significance	Pathogenic
Disease	Sialic acid storage disease
Variation	info
Gene	SLC17A5
CLNDBN	Sialic acid storage disease, severe infantile type
Reversed	1
HGVS	NC_000006.11:g.74348200T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005970.3,